Next-generation sequencing based newborn screening and comparative analysis with MS/MS

Abstract Background Newborn screening (NBS), such as tandem mass spectrometry (MS/MS), may yield false positive/negative results. Next-generation sequencing (NGS) has the potential to provide increased data output, efficiencies, and applications. This study aimed to analyze the types and distributio...

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Bibliographic Details
Main Authors: Guosong Shen, Wenwen Li, Yaqin Zhang, Lyuyan Chen
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s12887-024-04718-x